Disease

OMIM

UKGTN service*

(Approved, Pending, N/A)

Axenfeld-Rieger Syndrome (Disease MIM 180500, 602482)

PITX2 601542

FOXC1 601090

Approved

Barth Syndrome (Disease MIM 302060)

TAZ/G4.5 300394

Approved

BCR-ABL in CML
BCR-ABL in ALL

151410

189980

Butyrylcholinesterase deficiency (Cholinesterase Unit, Clinical Biochemistry Dept)

177400

Charcot-Marie-Tooth see Inherited Peripheral Neuropathies

Chromosome analysis (child/adult) � postnatal, with/without FISH* (blood, solid tissue)

Chromosome analysis (prenatal diagnosis) with/without FISH*(amniotic fluid, CVS, fetal blood)

Chromosome analysis (leukaemia, lymphoma) with/without FISH*(blood, bone marrow, tumour)

Chromosome instability syndrome testing (for Fanconi Anaemia, Ataxia Telangiectasia, Nijmegen Breakage Syndrome, Blooms Syndrome, Roberts Syndrome and SC Phocomelia, Premature Chromosome Condensation, ICF Syndrome)

Chronic Lymphocytic Leaukaemia (CLL) - mutational status of clonal IGVH gene rearrangements

Cockayne Syndrome (CS)

ERCC6 609413
ERCC8 609412

Colorectal Cancer
Microsatellite Instability and BRAF
Acquired KRAS mutation testing

BRAF 164757

KRAS 190070

Congenital Amegakaryocytic Thrombocytopenia (CAMT) (Disease MIM 604498)

MPL 159530

Approved

Congenital Central Hypoventilation Syndrome (CCHS) (Disease MIM 209880)

PHOX2B 603851

Approved

Cystic Fibrosis (Disease MIM 219700)

CFTR 602421

Approved

Deafness (DFNB1)

GJB2 (Cx26) 121011
GJB6 (Cx30) 604418

Dysmorphism and/or developmental delay - microarray analysis

Dystonia (Early-onset Primary Dystonia) (Dyt1) (Disease MIM 128100)

TOR1A 605204

Epidermal Growth Factor Receptor (EGFR) (EGFR Referral Form)

EGFR 131550

Ellis Van Creveld (Disease MIM 225500)

EVC 604831

EVC2 607261

Approved

Factor V and Prothrombin

F5 612309

F2 176930

Familial Hypercholesterolaemia (Disease MIM 143890)
(Autosomal Dominant Hypercholesterolaemia, Familial Defective APOB and PCSK9-related ADH)

LDLR 606945

APOB 107730

PCSK9 607786

Approved

Facioscapulohumeral Dystrophy (FSHD)

D4Z4 repeat analysis and 4qA/B analysis

158900

Approved

FLT3-NPM1 in AML

136351

164040

Fragile X Syndrome

FMR1 309550

Approved

Galactosaemia

GALT 230400

Approved

Gliomas LOH of 1p36/19q13, Methylation of MGMT and IDH1/IDH2

156569

Haemochromatosis

HFE 235200

Huntington Disease (Disease MIM 143100)

IT15 613004

Approved

Inherited Peripheral Neuropathies

CMT Dominant Demyelinating CMT1A (Disease MIM 118200)

PMP22

601097

Approved

CMT Dominant Demyelinating CMT1B (Disease MIM 118220)

MPZ

159440

Approved

CMT Dominant Demyelinating CMT1C (Testing Criteria) (Disease MIM 601098)

LITAF

603795

Approved

CMT Dominant Demyelinating CMT1D (Testing Criteria) (Disease MIM 607678)

EGR2

129010

Approved

CMT Dominant Demyelinating CMT1F (Testing Criteria) (Disease MIM 607734)

NEFL

162280

Approved

CMT Dominant Axonal CMT2A (Disease MIM 609260)

MFN2

608507

Approved

CMT Dominant Axonal CMT2E (Testing Criteria) (Disease MIM 607684)

NEFL

162280

Approved

CMT Dominant Axonal CMT2I (Disease MIM 607677)

MPZ

159440

Approved

CMT Recessive Demyelinating CMT4E (Testing Criteria)/Congenital Hypomyelinating Neuropathy (Disease MIM 605253)

EGR2

129010

Approved

CMT Recessive Demyelinating CMT4F (Testing Criteria)/Hypertrophic Neuropathy of Dejerine-Sottas (Disease MIM 145900)

PRX

605725

Approved

CMT X-Linked (Disease MIM 302800)

GJB1 (CX32)

304040

Approved

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) (Disease MIM 162500)

PMP22

601097

Approved

Hereditary Sensory and Autonomic Neuropathy HSAN1 (Disease MIM 162400)

SPTLC1

605712

Approved

Hereditary Sensory and Autonomic Neuropathy HSAN1 (Disease MIM 162400)/CMT2B (Disease MIM 600882) (Testing Criteria)

RAB7A (RAB7)

602298

Approved

Distal Hereditary Motor Neuropathy Type 2B (Testing Criteria)/CMT CMT2F (Disease MIM 608634)

HSPB1

602195

Approved

Distal Hereditary Motor Neuropathy Type 2A (Testing Criteria)/CMT Axonal CMT2L (Disease MIM 158590)

HSPB8

608014

Approved

Distal Hereditary Motor Neuropathy Type V (Testing Criteria) (Disease MIM 600794)

BSCL2

606158

Approved

JAK2 in myeloproliferative neoplasms

V617F & Exon 12

JAK2 147796

Learning difficulties +/- dysmorphism - microarray analysis

Lymphoma - Immunoglobulin and T-cell receptor clonality testing

Medium Chain Acyl CoA Dehydrognase Deficiency (MCAD)

ACADM 607008

Approved

Melanoma - BRAF analysis

BRAF 164757

Microarray analysis(developmental delay/learning difficulty +/- dysmorphism)

MPL in myeloproliferative neoplasms (MPN)

Myeloproliferative neoplasms, see JAK2 and MPL

MRD (Minimal Residual Disease) analysis in Childhood Acute Lymphoblastic Leukaemia Immunoglobulin and T-cell receptor gene rearrangements

Myotonic Dystrophy (Disease MIM 160900)

DMPK 605377

Approved

Osteopetrosis - Autosomal Dominant
Osteopetrosis - Autosomal Recessive CLCN7, OSTM1, RANKL

Rapid Aneuploidy Screening (amniotic fluid, CVS, fetal blood, neonatal blood)

Smith-Lemli Opitz (Disease MIM 270400)

DHCR7 602858

Approved

Spinal Muscular Atrophy (Disease MIM 253300)

SMN 600354

Approved

Thrombocytopenia-Absent Radius Syndrome (TAR) (Chromosome 1q21.1 deletion syndrome) (Disease MIM 274000)

Approved

Y Microdeletion Analysis

415000

Approved

Zygosity analysis

Approved